JAX
Mouse Strain Datasheet - 003598
B6.129-Htttm5Mem/J
Also Known As: HdhQ111 KI
These Htt knock-in mice exhibit a Huntington's-like pathology.
Donating Investigator
IMR Colony, The Jackson Laboratory
Genetic overview
| Genetic Background | Generation |
|---|---|
|
000664 C57BL/6J |
|
Htttm5Mem
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Targeted | Htt | huntingtin |
Detailed Description
This strain carries 111 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of the phenotype occurs earlier than in Htttm4, (Stock No. 003455).
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
Development
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes and 111 CAG repeat units was used to disrupt exon 1. The construct was electroporated into 129 derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric male animals were crossed to CD1 mice, and then backcrossed to C57BL/6J for 6 generations.
Control Suggestions
Selected References
- Wheeler VC; Auerbach W; White JK; Srinidhi J; Auerbach A; Ryan A ; Duyao MP ; Vrbanac V ; Weaver M ; Gusella JF ; Joyner AL ; MacDonald ME. 1999. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet 8(1):115-22. PubMed: 9887339MGI: J:52440
Htttm5Mem
Allele Symbol: Htttm5Mem
| Allele Name | targeted mutation 5, Marcy E MacDonald |
|---|---|
| Allele Type | Targeted |
| Allele Synonym(s) | HdhQ111 |
| Gene Symbol and Name | Htt, huntingtin |
| Gene Synonym(s) | AI256365; C430023I11Rik; C430023I11Rik; HD; Hd; Hd; Hdh; Hdh; Huntington disease (human); Huntington disease gene homolog; IT15; LOMARS; RIKEN cDNA C430023I11 gene; expressed sequence AI256365; htt |
| Promoter | Htt, huntingtin, mouse, laboratory |
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
| Chromosome | 5 |
| Molecular Note | This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene. It is a derivative of Htttm8 in which the neo cassette has been removed via cre-mediated recombination. |
| Mutations Made By | Dr. Marcy MacDonald, Massachusetts General Hospital |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Htttm5Mem related
- Neurobiology Research
- Cortical Defects
- Huntington's disease
- Neurodegeneration
Mammalian Phenotype Terms by Genotype
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Htttm5Mem/Htt+
involves: 129S1/Sv * 129X1/SvJ * CD-1
nervous system phenotype
- abnormal medium spiny neuron morphology
- exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions and insoluble aggregate that are hallmarks of Huntington's Disease in humans, although at a slower rate than in homozygoteshan in homozygotes (MGI Ref ID J:60937)
- abnormal striatum morphology
- (MGI Ref ID J:60937)
- neuronal intranuclear inclusions
- (MGI Ref ID J:60937)
Genotype: Htttm5Mem/Htttm5Mem
involves: 129S1/Sv * 129X1/SvJ * CD-1
nervous system phenotype
- abnormal cerebral cortex morphology
- QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease (MGI Ref ID J:111237)
- abnormal medium spiny neuron morphology
- exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions (at around 10 months) and insoluble aggregate that are hallmarks of Huntington's Disease in humans (MGI Ref ID J:60937)
- abnormal nervous system physiology
- between 8 and 12 weeks of age, striatal mitochondria develops resistance to calcium, becoming equally sensitive to calcium as cortical mitochondria, whereas in wild-type, striatal mitochondria is more sensitive to calcium than cortical mitochondria (MGI Ref ID J:99425)
- abnormal striatum morphology
- neuronal intranuclear inclusions
- observed at 10 months (MGI Ref ID J:60937)
behavior/neurological phenotype
- abnormal behavior
- onset of persistent rubbing and irritability from 12 to 16 months of age (MGI Ref ID J:99425)
- hypoactivity
- onset of hypoactivity from 12 to 16 months of age (MGI Ref ID J:99425)
- limb grasping
- onset of clasping behavior from 12 to 16 months of age (MGI Ref ID J:99425)
- tremors
- onset of trembling from 12 to 16 months of age (MGI Ref ID J:99425)
Genotype: Htttm5Mem/Htttm5Mem
STOCK Htttm5Mem/J
behavior/neurological phenotype
- abnormal motor coordination/ balance
- behavior/neurological phenotype
- dark preference in dark/light choice test is similar to controls (MGI Ref ID J:185262)
- mice do not exhibit a decrease in climbing activity (MGI Ref ID J:185262)
- mice do not exhibit a deterioration in grip strength as compared to controls (MGI Ref ID J:185262)
- mice do not exhibit hypoactivity or rearing in open field test that differs significantly from controls (MGI Ref ID J:185262)
- stride length, splay length and base are similar to controls (MGI Ref ID J:185262)
growth/size/body region phenotype
- decreased body weight
- decrease in body weight is decreased by 28 weeks in both genders (MGI Ref ID J:185262)
nervous system phenotype
- nervous system phenotype
- mice do not exhibit alterations in startle reflex or in prepulse inhibition (MGI Ref ID J:185262)
References
- Wheeler VC; Auerbach W; White JK; Srinidhi J; Auerbach A; Ryan A ; Duyao MP ; Vrbanac V ; Weaver M ; Gusella JF ; Joyner AL ; MacDonald ME. 1999. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet 8(1):115-22. PubMed: 9887339MGI: J:52440
Additional References
- Wheeler VC; White JK; Gutekunst CA; Vrbanac V; Weaver M; Li XJ; Li SH; Yi H; Vonsattel JP; Gusella JF; Hersch S; Auerbach W; Joyner AL; MacDonald ME. 2000. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9(4):503-13. PubMed: 10699173MGI: J:60937
- White JK; Auerbach W; Duyao MP; Vonsattel JP; Gusella JF; Joyner AL ; MacDonald ME. 1997. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 17(4):404-10. PubMed: 9398841MGI: J:44391
Additional - Htttm5Mem related
- Auerbach W; Hurlbert MS; Hilditch-Maguire P; Wadghiri YZ; Wheeler VC; Cohen SI; Joyner AL; MacDonald ME; Turnbull DH. 2001. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet 10(22):2515-23. PubMed: 11709539MGI: J:72915
- Brito V; Giralt A; Enriquez-Barreto L; Puigdellivol M; Suelves N; Zamora-Moratalla A; Ballesteros JJ; Martin ED; Dominguez-Iturza N; Morales M; Alberch J; Gines S. 2014. Neurotrophin receptor p75(NTR) mediates Huntington's disease-associated synaptic and memory dysfunction. J Clin Invest 124(10):4411-28. PubMed: 25180603MGI: J:217639
- Brito V; Puigdellivol M; Giralt A; del Toro D; Alberch J; Gines S. 2013. Imbalance of p75(NTR)/TrkB protein expression in Huntington's disease: implication for neuroprotective therapies. Cell Death Dis 4:e595. PubMed: 23598407MGI: J:198508
- Brustovetsky N; LaFrance R; Purl KJ; Brustovetsky T; Keene CD; Low WC; Dubinsky JM. 2005. Age-dependent changes in the calcium sensitivity of striatal mitochondria in mouse models of Huntington's Disease. J Neurochem 93(6):1361-70. PubMed: 15935052MGI: J:99425
- Chaturvedi RK; Hennessey T; Johri A; Tiwari SK; Mishra D; Agarwal S; Kim YS; Beal MF. 2012. Transducer of regulated CREB-binding proteins (TORCs) transcription and function is impaired in Huntington's disease. Hum Mol Genet 21(15):3474-88. PubMed: 22589249MGI: J:185361
- Cherubini M; Puigdellivol M; Alberch J; Gines S. 2015. Cdk5-mediated mitochondrial fission: A key player in dopaminergic toxicity in Huntington's disease. Biochim Biophys Acta 1852(10 Pt A):2145-60. PubMed: 26143143MGI: J:231200
- Crook ZR; Housman D. 2011. Huntington's disease: can mice lead the way to treatment? Neuron 69(3):423-35. PubMed: 21315254MGI: J:174750
- Crook ZR; Housman DE. 2012. Dysregulation of dopamine receptor D2 as a sensitive measure for Huntington disease pathology in model mice. Proc Natl Acad Sci U S A 109(19):7487-92. PubMed: 22529362MGI: J:184816
- Du Z; Chazalon M; Bestaven E; Leste-Lasserre T; Baufreton J; Cazalets JR; Cho YH; Garret M. 2016. Early GABAergic transmission defects in the external globus pallidus and rest/activity rhythm alteration in a mouse model of Huntington's disease. Neuroscience 329:363-79. PubMed: 27217211MGI: J:235954
- El-Daher MT; Hangen E; Bruyere J; Poizat G; Al-Ramahi I; Pardo R; Bourg N; Souquere S; Mayet C; Pierron G; Leveque-Fort S; Botas J; Humbert S; Saudou F. 2015. Huntingtin proteolysis releases non-polyQ fragments that cause toxicity through dynamin 1 dysregulation. EMBO J 34(17):2255-71. PubMed: 26165689MGI: J:225983
- Fossale E; Seong IS; Coser KR; Shioda T; Kohane IS; Wheeler VC; Gusella JF; Macdonald ME; Lee JM. 2011. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet 20(21):4258-67. PubMed: 21840924MGI: J:176675
- Fossale E; Wheeler VC; Vrbanac V; Lebel LA; Teed A; Mysore JS; Gusella JF; MacDonald ME; Persichetti F. 2002. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet 11(19):2233-41. PubMed: 12217951MGI: J:79126
- Gines S; Bosch M; Marco S; Gavalda N; Diaz-Hernandez M; Lucas JJ; Canals JM; Alberch J. 2006. Reduced expression of the TrkB receptor in Huntington's disease mouse models and in human brain. Eur J Neurosci 23(3):649-58. PubMed: 16487146MGI: J:107146
- Gines S; Seong IS; Fossale E; Ivanova E; Trettel F; Gusella JF; Wheeler VC; Persichetti F; MacDonald ME. 2003. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet 12(5):497-508. PubMed: 12588797MGI: J:82117
- Giralt A; Puigdellivol M; Carreton O; Paoletti P; Valero J; Parra-Damas A; Saura CA; Alberch J; Gines S. 2012. Long-term memory deficits in Huntington's disease are associated with reduced CBP histone acetylase activity. Hum Mol Genet 21(6):1203-16. PubMed: 22116937MGI: J:181152
- Godin JD; Poizat G; Hickey MA; Maschat F; Humbert S. 2010. Mutant huntingtin-impaired degradation of beta-catenin causes neurotoxicity in Huntington's disease. EMBO J 29(14):2433-45. PubMed: 20531388MGI: J:162096
- Goula AV; Berquist BR; Wilson DM 3rd; Wheeler VC; Trottier Y; Merienne K. 2009. Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice. PLoS Genet 5(12):e1000749. PubMed: 19997493MGI: J:161747
- Grison A; Mantovani F; Comel A; Agostoni E; Gustincich S; Persichetti F; Del Sal G. 2011. Ser46 phosphorylation and prolyl-isomerase Pin1-mediated isomerization of p53 are key events in p53-dependent apoptosis induced by mutant huntingtin. Proc Natl Acad Sci U S A 108(44):17979-84. PubMed: 22011578MGI: J:180055
- Guidetti P; Bates GP; Graham RK; Hayden MR; Leavitt BR; MacDonald ME; Slow EJ; Wheeler VC; Woodman B; Schwarcz R. 2006. Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiol Dis 23(1):190-7. PubMed: 16697652MGI: J:111237
- Holter SM; Stromberg M; Kovalenko M; Garrett L; Glasl L; Lopez E; Guide J; Gotz A; Hans W; Becker L; Rathkolb B; Rozman J; Schrewed A; Klingenspor M; Klopstock T; Schulz H; Wolf E; Wursta W; Gillis T; Wakimoto H; Seidman J; MacDonald ME; Cotman S; Gailus-Durner V; Fuchs H; de Angelis MH; Lee JM; Wheeler VC. 2013. A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One 8(11):e80923. PubMed: 24278347MGI: J:209776
- Jacobsen JC; Gregory GC; Woda JM; Thompson MN; Coser KR; Murthy V; Kohane IS; Gusella JF; Seong IS; Macdonald ME; Shioda T; Lee JM. 2011. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet 20(14):2846-60. PubMed: 21536587MGI: J:173410
- Keryer G; Pineda JR; Liot G; Kim J; Dietrich P; Benstaali C; Smith K; Cordelieres FP; Spassky N; Ferrante RJ; Dragatsis I; Saudou F. 2011. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest 121(11):4372-82. PubMed: 21985783MGI: J:178446
- Kovalenko M; Dragileva E; St Claire J; Gillis T; Guide JR; New J; Dong H; Kucherlapati R; Kucherlapati MH; Ehrlich ME; Lee JM; Wheeler VC. 2012. Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice. PLoS One 7(9):e44273. PubMed: 22970194MGI: J:191886
- Langfelder P; Cantle JP; Chatzopoulou D; Wang N; Gao F; Al-Ramahi I; Lu XH; Ramos EM; El-Zein K; Zhao Y; Deverasetty S; Tebbe A; Schaab C; Lavery DJ; Howland D; Kwak S; Botas J; Aaronson JS; Rosinski J; Coppola G; Horvath S; Yang XW. 2016. Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice. Nat Neurosci 19(4):623-33. PubMed: 26900923MGI: J:234512
- Lee JM; Pinto RM; Gillis T; St Claire JC; Wheeler VC. 2011. Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver. PLoS One 6(8):e23647. PubMed: 21897851MGI: J:176142
- Liu CR; Chang CR; Chern Y; Wang TH; Hsieh WC; Shen WC; Chang CY; Chu IC; Deng N; Cohen SN; Cheng TH. 2012. Spt4 is selectively required for transcription of extended trinucleotide repeats. Cell 148(4):690-701. PubMed: 22341442MGI: J:181549
- Lloret A; Dragileva E; Teed A; Espinola J; Fossale E; Gillis T; Lopez E; Myers RH; MacDonald ME; Wheeler VC. 2006. Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Hum Mol Genet 15(12):2015-24. PubMed: 16687439MGI: J:112063
- Lynch G; Kramar EA; Rex CS; Jia Y; Chappas D; Gall CM; Simmons DA. 2007. Brain-derived neurotrophic factor restores synaptic plasticity in a knock-in mouse model of Huntington's disease J Neurosci 27(16):4424-4434. PubMed: 17442827MGI: J:119836
- Manczak M; Reddy PH. 2015. Mitochondrial division inhibitor 1 protects against mutant huntingtin-induced abnormal mitochondrial dynamics and neuronal damage in Huntington's disease. Hum Mol Genet 24(25):7308-25. PubMed: 26464486MGI: J:226831
- Mao Y; Chen X; Xu M; Fujita K; Motoki K; Sasabe T; Homma H; Murata M; Tagawa K; Tamura T; Kaye J; Finkbeiner S; Blandino G; Sudol M; Okazawa H. 2016. Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington's disease pathology. Hum Mol Genet :. PubMed: 27619483MGI: J:238625
- Marco S; Giralt A; Petrovic MM; Pouladi MA; Martinez-Turrillas R; Martinez-Hernandez J; Kaltenbach LS; Torres-Peraza J; Graham RK; Watanabe M; Lujan R; Nakanishi N; Lipton SA; Lo DC; Hayden MR; Alberch J; Wesseling JF; Perez-Otano I. 2013. Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models. Nat Med 19(8):1030-8. PubMed: 23852340MGI: J:200090
- McFarland KN; Huizenga MN; Darnell SB; Sangrey GR; Berezovska O; Cha JH; Outeiro TF; Sadri-Vakili G. 2014. MeCP2: a novel Huntingtin interactor. Hum Mol Genet 23(4):1036-44. PubMed: 24105466MGI: J:205992
- Menalled L; El-Khodor BF; Patry M; Suarez-Farinas M; Orenstein SJ; Zahasky B; Leahy C; Wheeler V; Yang XW; MacDonald M; Morton AJ; Bates G; Leeds J; Park L; Howland D; Signer E; Tobin A; Brunner D. 2009. Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiol Dis 35(3):319-36. PubMed: 19464370MGI: J:185262
- Mochel F; Durant B; Meng X; O'Callaghan J; Yu H; Brouillet E; Wheeler VC; Humbert S; Schiffmann R; Durr A. 2012. Early alterations of brain cellular energy homeostasis in huntington disease models. J Biol Chem 287(2):1361-70. PubMed: 22123819MGI: J:179665
- Molero AE; Gokhan S; Gonzalez S; Feig JL; Alexandre LC; Mehler MF. 2009. Impairment of developmental stem cell-mediated striatal neurogenesis and pluripotency genes in a knock-in model of Huntington's disease. Proc Natl Acad Sci U S A :. PubMed: 19955426MGI: J:155518
- Morfini GA; You YM; Pollema SL; Kaminska A; Liu K; Yoshioka K; Bjorkblom B; Coffey ET; Bagnato C; Han D; Huang CF; Banker G; Pigino G; Brady ST. 2009. Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin. Nat Neurosci 12(7):864-71. PubMed: 19525941MGI: J:152570
- Orvoen S; Pla P; Gardier AM; Saudou F; David DJ. 2012. Huntington's disease knock-in male mice show specific anxiety-like behaviour and altered neuronal maturation. Neurosci Lett 507(2):127-32. PubMed: 22178857MGI: J:180131
- Paoletti P; Vila I; Rife M; Lizcano JM; Alberch J; Gines S. 2008. Dopaminergic and glutamatergic signaling crosstalk in Huntington's disease neurodegeneration: the role of p25/cyclin-dependent kinase 5. J Neurosci 28(40):10090-101. PubMed: 18829967MGI: J:143463
- Puigdellivol M; Cherubini M; Brito V; Giralt A; Suelves N; Ballesteros J; Zamora-Moratalla A; Martin ED; Eipper BA; Alberch J; Gines S. 2015. A role for Kalirin-7 in corticostriatal synaptic dysfunction in Huntington's disease. Hum Mol Genet 24(25):7265-85. PubMed: 26464483MGI: J:226832
- Reis SA; Thompson MN; Lee JM; Fossale E; Kim HH; Liao JK; Moskowitz MA; Shaw SY; Dong L; Haggarty SJ; Macdonald ME; Seong IS. 2011. Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. Hum Mol Genet 20(12):2344-55. PubMed: 21447599MGI: J:171983
- Ribeiro FM; Devries RA; Hamilton A; Guimaraes IM; Cregan SP; Pires RG; Ferguson SS. 2014. Metabotropic glutamate receptor 5 knockout promotes motor and biochemical alterations in a mouse model of Huntington's disease. Hum Mol Genet 23(8):2030-42. PubMed: 24282028MGI: J:207093
- Ribeiro FM; Paquet M; Ferreira LT; Cregan T; Swan P; Cregan SP; Ferguson SS. 2010. Metabotropic glutamate receptor-mediated cell signaling pathways are altered in a mouse model of Huntington's disease. J Neurosci 30(1):316-24. PubMed: 20053912MGI: J:164039
- Ribeiro M; Rosenstock TR; Oliveira AM; Oliveira CR; Rego AC. 2014. Insulin and IGF-1 improve mitochondrial function in a PI-3K/Akt-dependent manner and reduce mitochondrial generation of reactive oxygen species in Huntington's disease knock-in striatal cells. Free Radic Biol Med 74:129-44. PubMed: 24992836MGI: J:220144
- Saavedra A; Giralt A; Arumi H; Alberch J; Perez-Navarro E. 2013. Regulation of hippocampal cGMP levels as a candidate to treat cognitive deficits in Huntington's disease. PLoS One 8(9):e73664. PubMed: 24040016MGI: J:207349
- Saavedra A; Giralt A; Rue L; Xifro X; Xu J; Ortega Z; Lucas JJ; Lombroso PJ; Alberch J; Perez-Navarro E. 2011. Striatal-Enriched Protein Tyrosine Phosphatase Expression and Activity in Huntington's Disease: A STEP in the Resistance to Excitotoxicity. J Neurosci 31(22):8150-8162. PubMed: 21632937MGI: J:173377
- Snider BJ; Moss JL; Revilla FJ; Lee CS; Wheeler VC; Macdonald ME; Choi DW. 2003. Neocortical neurons cultured from mice with expanded CAG repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults. Neuroscience 120(3):617-25. PubMed: 12895502MGI: J:128151
- Tourette C; Farina F; Vazquez-Manrique RP; Orfila AM; Voisin J; Hernandez S; Offner N; Parker JA; Menet S; Kim J; Lyu J; Choi SH; Cormier K; Edgerly CK; Bordiuk OL; Smith K; Louise A; Halford M; Stacker S; Vert JP; Ferrante RJ; Lu W; Neri C. 2014. The Wnt receptor Ryk reduces neuronal and cell survival capacity by repressing FOXO activity during the early phases of mutant huntingtin pathogenicity. PLoS Biol 12(6):e1001895. PubMed: 24960609MGI: J:213778
- Tyebji S; Saavedra A; Canas PM; Pliassova A; Delgado-Garcia JM; Alberch J; Cunha RA; Gruart A; Perez-Navarro E. 2015. Hyperactivation of D1 and A2A receptors contributes to cognitive dysfunction in Huntington's disease. Neurobiol Dis 74:41-57. PubMed: 25449908MGI: J:218769
- Vidal RL; Figueroa A; Court FA; Thielen P; Molina C; Wirth C; Caballero B; Kiffin R; Segura-Aguilar J; Cuervo AM; Glimcher LH; Hetz C. 2012. Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy. Hum Mol Genet 21(10):2245-62. PubMed: 22337954MGI: J:183791
- Wheeler VC; Gutekunst CA; Vrbanac V; Lebel LA; Schilling G; Hersch S; Friedlander RM; Gusella JF; Vonsattel JP; Borchelt DR; MacDonald ME. 2002. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet 11(6):633-40. PubMed: 11912178MGI: J:75831
- Wheeler VC; Lebel LA; Vrbanac V; Teed A; Te Riele H; MacDonald ME. 2003. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet 12(3):273-81. PubMed: 12554681MGI: J:81666
- Wheeler VC; White JK; Gutekunst CA; Vrbanac V; Weaver M; Li XJ; Li SH; Yi H; Vonsattel JP; Gusella JF; Hersch S; Auerbach W; Joyner AL; MacDonald ME. 2000. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9(4):503-13. PubMed: 10699173MGI: J:60937
- Yhnell E; Lelos MJ; Dunnett SB; Brooks SP. 2016. Cognitive training modifies disease symptoms in a mouse model of Huntington's disease. Exp Neurol 282:19-26. PubMed: 27163546MGI: J:236734
- Yin X; Manczak M; Reddy PH. 2016. Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease. Hum Mol Genet 25(9):1739-53. PubMed: 26908605MGI: J:233022